ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.219+23G>A (rs200726108)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002659 SCV001160645 uncertain significance Hereditary hemorrhagic telangiectasia type 1 2019-06-12 criteria provided, single submitter clinical testing The ENG c.219+23G>A variant (rs200726108), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found in the Finnish European population with an overall allele frequency of 0.30% (74/25078 alleles) in the Genome Aggregation Database. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site. However, functional analyses would be required to confirm an effect on splicing. Due to limited information, the clinical significance of the c.219+23G>A variant is uncertain at this time.

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